Eur J Endocrinol. 2024 Apr 23:lvae049. doi: 10.1093/ejendo/lvae049. Online ahead of print.
ABSTRACT
BACKGROUND AND OBJECTIVE: Apparent mineralocorticoid excess (AME) syndrome is an ultra-rare autosomal-recessive tubulopathy, caused by mutations in HSD11B2, leading to excessive activation of the kidney mineralocorticoid receptor, and characterized by early-onset low-renin hypertension, hypokalemia, and risk of chronic kidney disease (CKD). To date, most reports included few patients, and none described patients from Israel. We aimed to describe AME patients from Israel and to review the relevant literature.
DESIGN: Retrospective cohort study.
METHODS: Clinical, laboratory, and molecular data from patients’ records were collected.
RESULTS: Five patients presented at early childhood with normal estimated glomerular filtration rate (eGFR), while two patients presented during late childhood with CKD. Molecular analysis revealed two novel homozygous mutations in HSD11B2. All patients presented with severe hypertension and hypokalemia. While all patients developed nephrocalcinosis, only one showed hypercalciuria. All individuals were managed with potassium supplements, mineralocorticoid receptor antagonists, and various antihypertensive medications. One patient survived cardiac arrest secondary to severe hyperkalemia. At last follow-up, those five patients who presented early exhibited normal eGFR and near-normal blood pressure, but two have hypertension complications. The two patients who presented with CKD progressed to end-stage kidney disease (ESKD) necessitating dialysis and kidney transplantation.
CONCLUSIONS: In this 11-year follow-up report of two Israeli families with AME, patients who presented early maintained long-term normal kidney function, while those who presented late progressed to ESKD. Nevertheless, despite early diagnosis and management, AME is commonly associated with serious complications of the disease or its treatment.
PMID:38652803 | DOI:10.1093/ejendo/lvae049
